Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents

H. Lou, F. G�ttler, C. Lykkelund, +2

European Journal of Pediatrics

NutritionPhysiologyClinical NutritionNutritional NeurosciencePsychopharmacology +6

Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

Ranaiit Chakraborty, Alan S. Lidsky, Stephen P. Daiger, +4

Human Genetics

Genetic AnalysisGenetic DisorderGeneticsHuman PolymorphismMolecular Biology +5

Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine

C. Lykkelund, Jytte Bieber Nielsen, H. Lou, +4

European Journal of Pediatrics

Health SciencesBiochemistryNeurotransmitter BiosynthesisPhysiologyUnrestricted Diet +6

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria

F. G�ttler, Fred D. Ledley, Alan S. Lidsky, +3

The Journal of Pediatrics

Phenylalanine Hydroxylase LocusGenetic DisorderGeneticsPolymorphic Dna HaplotypesClinical Phenotypes +7

Variability in clinical expression of Menkes syndrome

Anne‐Marie Gerdes, T. T�nnesen, Eugene Pergament, +5

European Journal of Pediatrics

Mendelian DisorderGenetic DisorderHistopathologyPathologyMenkes Syndrome +2

Molecular characterization of PKU allele prevalent in southern Europe and Ireland

M. Dasovich, David Konecki, Uta Lichter‐Konecki, +7

Somatic Cell and Molecular Genetics

Molecular CharacterizationAllelic VariantMolecular EcologyMolecular EvidenceMedicine +7

Combined tetrahydrobiopterin-phenylalanine loading test in the detection of partially defective biopterin synthesis

F. G�ttler, H. C. Lou, C. Lykkelund, +1

European Journal of Pediatrics

Defective Biopterin SynthesisBiosynthesisBioorganic ChemistryEngineeringBiochemistry +6

Molecular biology of phenylketonuria

F. G�ttler, Anthony G. DiLella, Fred D. Ledley, +4

European Journal of Pediatrics

BiologyBiosynthesisBiochemical TaxonomyNatural SciencesMolecular Biology +2

The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria

Jadwiga Jaruzelska, KarenFriis Henriksen, F. G�ttler, +3

Human Genetics

BiologyHaplotype DeterminationMendelian DisorderHaplotype 2Polish Families +9

A Phenylalanine Hydroxylase Amino Acid Polymorphism with Implications for Molecular Diagnostics

Torben Gjetting, Anne Romstad, Jan Haavik, +6

Molecular Genetics and Metabolism

BiochemistryGenetic DisorderNatural SciencesGeneticsHuman Polymorphism +4